title: Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition.
abstract: Two siblings with a congenital syndrome of secretory diarrhea and seizures developed progressive skin rash, alopecia, and mucocutaneous candidiasis while receiving biotin-free total parenteral nutrition. Abnormally low urinary biotin excretion was associated with these clinical findings, but the serum concentration of biotin was within the normal range. There was also increased urinary excretion of lactic acid, 3-hydroxyisovaleric acid, 3-hydroxypropionic acid, and 3-methylcrotonylglycine. The younger of the two children subsequently died with severe metabolic acidosis. In the oder sibling, intravenous treatment with biotin (200 micrograms/day) resulted in resolution of the organic aciduria. A larger dose (10 mg/day) appeared to be required for rapid improvement in the skin lesions. These cases suggest that clinically significant biotin deficiency can occur in patients with chronic diarrhea receiving biotin-free total parenteral nutrition.
mesh_terms: D001710:Biotin / Q000378:metabolism / Q000627:therapeutic use*; D019735:Carbon-Carbon Ligases; D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D003968:Diarrhea, Infantile / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D005260:Female; D006801:Humans; D008025:Ligases / Q000172:deficiency*; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D010288:Parenteral Nutrition / Q000009:adverse effects*; D010289:Parenteral Nutrition, Total / Q000009:adverse effects*; D011422:Propionates / Q000172:deficiency; D012640:Seizures / Q000150:complications / Q000235:genetics / Q000628:therapy
chemical_list: D011422:Propionates; D001710:Biotin; D002262:Carboxy-Lyases; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D043586:Methylmalonyl-CoA Decarboxylase